Immune deficiencies, infection, and systemic immune disorders
Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation

https://doi.org/10.1016/j.jaci.2013.05.031Get rights and content

Background

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by serious infections and inflammation. It can be managed conservatively with prophylactic antimicrobial agents or curatively with hematopoietic stem cell transplantation (HSCT). In the United Kingdom and Ireland there are cohorts of children managed both conservatively and curatively.

Objectives

This study aimed to compare clinical outcomes (mortality and morbidity) in children managed conservatively and curatively.

Methods

Children were identified from specialist centers and advertising through special interest groups. Clinical data were collected from medical records regarding infections, inflammatory complications and growth, other admissions, and curative treatment. Comparisons were made for patients not undergoing HSCT and patients after HSCT.

Results

Seventy-three living children were identified, 59 (80%) of whom were recruited. Five deceased children were also identified. Clinical information was available for 62 children (4 deceased). Thirty (48%) children had undergone HSCT. Children who did not undergo transplantation had 0.71 episodes of infection/admission/surgery per CGD life year (95% CI, 0.69-0.75 events per year). Post-HSCT children had 0.15 episodes of infection/admission/surgery per transplant year (95% CI, 0.09-0.21 events per year). The mean z score for height and body mass index (BMI) for age was significantly better in post-HSCT children. Survival in the non-HSCT group was 90% at age 15 years. Survival in the post-HSCT group was 90%.

Conclusions

Children with CGD not undergoing transplantation have more serious infections, episodes of surgery, and admissions compared with post-HSCT children. Children undergoing transplantation have better height for age. Survival is good at the end of the pediatric age range and also after HSCT.

Section snippets

Methods

Children aged 16 years and less were eligible for this study because they are transitioned to adult care after this point. Potential participants were identified from the UK and Ireland CGD Registry, which was initially compiled in 2000 and was designed to identify all patients with CGD in the UK and Ireland.1 It was compiled by contacting consultants across the UK and Ireland and asking whether they had any patients with CGD. Once patients were enrolled, information was gathered by researchers

Results

Seventy-three living children were eligible for inclusion, of whom 59 (80%) were recruited. Five children who died before commencement of the study were also identified. Sixty-four (82%) patients were seen at the 2 national centers, and 14 children were identified from 5 other centers. Clinical information was abstracted for 62 children, 58 of the living children and 4 who died before commencement of the study. No records were available for data abstraction for 1 living and 1 deceased patient.

Discussion

This study reviewed the clinical course in children with CGD and those who have undergone transplantation. It demonstrates fewer infections and admissions to the hospital and improved growth in patients after transplantation compared with those who had not undergone transplantation. These data show that children in the UK with CGD have significant morbidity, with a serious infection once every 3.5 years; undergo a surgical procedure once every 4.8 years; and have an admission to the hospital

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This article presents independent research funded by the National Institute for Health Research (NIHR) under its Research for Patient Benefit (RfPB) Programme (grant reference no. PB-PG-0909-19060). The views expressed are those of the author(s) and not necessarily those of the National Health Service, the NIHR, or the Department of Health.

Disclosure of potential conflict of interest: T. Cole has received a grant from the National Institute for Health Research. The rest of the authors declare that they have no relevant conflicts of interest.

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